This website provides information on patients with mutations in the LIS1/PAFAH1B1 gene, including clinical data, molecular data, management and research options.
Disorders caused by mutations in the LIS1/PAFAH1B1 gene include classical lissencephaly sequence, Subcortical Band Heterotopia (SBH) and Miller-Dieker syndrome (MDS).
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the LIS1/PAFAH1B1 gene.
Renzo Guerrini, MD, Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy, renzo.guerrini@meyer.it
Elena Parrini, PhD, Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy, elena.parrini@meyer.it